Ingrid S. Paine
Baylor College of Medicine
AnatomyExome sequencingCongenital diaphragmatic herniaGeneticsBiology
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Publications 7
#1Ingrid S. Paine (BCM: Baylor College of Medicine)H-Index: 4
#2Jennifer E. Posey (BCM: Baylor College of Medicine)H-Index: 12
Last. James R. LupskiH-Index: 117
view all 51 authors...
Members of a paralogous gene family in which variation in one gene is known to cause disease are eight times more likely to also be associated with human disease. Recent studies have elucidated DHX30 and DDX3X as genes for which pathogenic variant alleles are involved in neurodevelopmental disorders. We hypothesized that variants in paralogous genes encoding members of the DExD/H-box RNA helicase superfamily might also underlie developmental delay and/or intellectual disability (DD and/or ID) di...
#1Valerie K. Jordan (BCM: Baylor College of Medicine)H-Index: 6
#2Tyler F. Beck (BCM: Baylor College of Medicine)H-Index: 6
Last. Daryl A. Scott (BCM: Baylor College of Medicine)H-Index: 36
view all 23 authors...
2 CitationsSource
#1Danielle A. Callaway (BCM: Baylor College of Medicine)H-Index: 6
#2Ian M. Campbell (Children's Hospital of Philadelphia)H-Index: 21
Last. Daryl A. Scott (BCM: Baylor College of Medicine)H-Index: 36
view all 14 authors...
Wolf–Hirschhorn syndrome (WHS) is caused by partial deletion of the short arm of chromosome 4 and is characterized by dysmorphic facies, congenital heart defects, intellectual/developmental disability, and increased risk for congenital diaphragmatic hernia (CDH). In this report, we describe a stillborn girl with WHS and a large CDH. A literature review revealed 15 cases of WHS with CDH, which overlap a 2.3-Mb CDH critical region. We applied a machine-learning algorithm that integrates large-scal...
1 CitationsSource
#1Nuriye Dinckan (Istanbul University)H-Index: 4
#2Renqian Du (BCM: Baylor College of Medicine)H-Index: 5
Last. Ariadne LetraH-Index: 24
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Tooth agenesis is a common craniofacial abnormality in humans and represents failure to develop 1 or more permanent teeth. Tooth agenesis is complex, and variations in about a dozen genes have been reported as contributing to the etiology. Here, we combined whole-exome sequencing, array-based genotyping, and linkage analysis to identify putative pathogenic variants in candidate disease genes for tooth agenesis in 10 multiplex Turkish families. Novel homozygous and heterozygous variants in LRP6, ...
12 CitationsSource
#1Yavuz Bayram (BCM: Baylor College of Medicine)H-Index: 13
#2Janson J. White (BCM: Baylor College of Medicine)H-Index: 9
Last. James R. LupskiH-Index: 117
view all 22 authors...
Hereditary gingival fibromatosis (HGF) is the most common genetic form of gingival fibromatosis that develops as a slowly progressive, benign, localized or generalized enlargement of keratinized gingiva. HGF is a genetically heterogeneous disorder and can be transmitted either as an autosomal-dominant or autosomal-recessive trait or appear sporadically. To date, four loci (2p22.1, 2p23.3–p22.3, 5q13–q22, and 11p15) have been mapped to autosomes and one gene ( SOS1 ) has been associated with the ...
11 CitationsSource
#1Ingrid S. Paine (BCM: Baylor College of Medicine)H-Index: 4
#2Michael T. Lewis (BCM: Baylor College of Medicine)H-Index: 36
The mammary gland is one of the most regenerative organs in the body, with the majority of development occurring postnatally and in the adult mammal. Formation of the ductal tree is orchestrated by a specialized structure called the terminal end bud (TEB). The TEB is responsible for the production of mature cell types leading to the elongation of the subtending duct. The TEB is also the regulatory control point for basement membrane deposition, branching, angiogenesis, and pattern formation. Whi...
29 CitationsSource
#1Ingrid S. Paine (BCM: Baylor College of Medicine)H-Index: 4
#2Arnaud ChauviereH-Index: 8
Last. Michael T. Lewis (BCM: Baylor College of Medicine)H-Index: 36
view all 7 authors...
Mathematics is often used to model biological systems. In mammary gland development, mathematical modeling has been limited to acinar and branching morphogenesis and breast cancer, without reference to normal duct formation. We present a model of ductal elongation that exploits the geometrically-constrained shape of the terminal end bud (TEB), the growing tip of the duct, and incorporates morphometrics, region-specific proliferation and apoptosis rates. Iterative model refinement and behavior an...
22 CitationsSource